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Connective tissue naevus with pseudo-Hurler polydystrophy

H Shinkai1, K Katagiri, Y Ishii

  • 1Department of Dermatology, Oita Medical University, Japan.

The British Journal of Dermatology
|April 1, 1994
PubMed
Summary

This study details the first reported case of a patient with both a large connective tissue nevus and pseudo-Hurler polydystrophy (mucolipidosis III). Skin analysis revealed abnormal collagen composition and reduced elastic fibers, alongside decreased glycosidase activity in fibroblasts.

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Area of Science:

  • Dermatology
  • Medical Genetics
  • Biochemistry

Background:

  • Connective tissue nevi are rare skin hamartomas.
  • Pseudo-Hurler polydystrophy (mucolipidosis III) is a rare lysosomal storage disorder affecting multiple organs.
  • The co-occurrence of these two conditions has not been previously documented.

Observation:

  • A 39-year-old male presented with a large connective tissue nevus on his back.
  • The patient also exhibited clinical features consistent with pseudo-Hurler polydystrophy.
  • This represents the first documented instance of these two rare conditions coexisting in a single patient.

Findings:

  • Histopathological examination of the lesional skin showed densely packed, coarse collagen fibers.
  • Immunohistochemistry confirmed the presence of type I, type III, and type VI collagens in the lesional skin.

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  • A moderate reduction in elastic fibers was observed, while glycosaminoglycan content was comparable to normal skin.
  • Cultured fibroblasts from the patient displayed significantly decreased activities of several glycosidases.

    • Implications:

    • This case highlights a potential, previously unrecognized association between connective tissue disorders and lysosomal storage diseases.
    • Further research may elucidate shared pathomechanisms or genetic links.
    • Understanding this association could lead to novel diagnostic or therapeutic strategies for patients with either condition.